A patient with thrombocytopenia and large platelets was discovered to have absent platelet membrane glycoprotein Ib-IX complex by flow cytometry. DNA was isolated from his peripheral blood leukocytes and glycoprotein IX gene sequences were amplified and sequenced, revealing a new mutation. His parents DNA was also iso-lated and sequenced, and both are heterozygotes for this mutation. This information was presented in abstract form at the national meeting of the American Society of Hematology in December, 1998. Over 50 normal subjects have been studied for this polymorphism, and a manuscript is in preparation.